Emerging challenges Concerning the Widening Scope of Prenatal Screening: A Guiding Ethical Framework

This project will focus on the ethical and societal challenges that arise in light of the widening scope of prenatal screening. How broad do we, as a society or individual, want prenatal screening panels to be? Non-invasive prenatal testing (NIPT) comprises a set of different technologies and techniques by which cell-free fetal DNA can be analyzed from a maternal blood sample in early pregnancy. Initially, NIPT was used to detect trisomies 21, 13 and 18, and later included sex-chromosome abnormalities. The most common technique for NIPT is whole-genome sequencing (WGS). Scientific and technological developments, like next-generation sequencing (NGS), create the possibility to test the fetus for an increasing amount of conditions subchromosomal anomalies like deletion syndromes 22q11.2 or 10p14-p13, monogenetic and polygenetic disorders, rare autosomal trisomies, and the carrier status for certain conditions. The introduction of new technologies in prenatal screening with the potential to widen its scope presents numerous ethical and societal challenges. Challenges are created with respect to autonomy, genetic privacy, the right not to know, informed decision-making, consent models, genetic counselling, reporting findings and incidental findings. Questions that will be explored in this project are: what findings should be reported to expectant parents, on which grounds, who will decide this and who pays? And, how can the interests of expectant parents and the interests of the future person be respected? In a context where prenatal screening is publicly funded, the question about the scope of prenatal screening is especially pertinent. On the whole, this project has two objectives: (1) to create an overview of the various ethical and societal challenges connected to the widening scope of prenatal screening; and (2) to develop an ethical framework for assessing and addressing said challenges in practice, as well as recommendations for genetic counselling for expectant parents to enhance informed decision-making.